p.Pro5 Gly40del variant of KCNQ4 (P56696)
p.Pro5 Gly40del in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro5 Gly40del variant details
- gnomAD 1-40784104-CCCCCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 19.20
- Most common in the REMAINING population (allele frequency 8.9e-05)
- Structural context available
- Literature evidence available